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Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy
BACKGROUND AND PURPOSE: The recent advances in genetics have helped to unravel the cause of many dystonia syndromes. With the broadening spectrum of genetically defined dystonia syndromes, distinct clinico‐radiological phenotypes are a welcome handle to guide the diagnostic work‐up. METHODS: Exome s...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Eur J Neurol |
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| Κύριοι συγγραφείς: | , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
John Wiley and Sons Inc.
2019
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6767441/ https://ncbi.nlm.nih.gov/pubmed/30897263 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/ene.13956 |
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